A syndrome of wide spaced eyes (ocular hypertelorism),
front-facing (anteverted) nostrils, a broad upper lip, a malformed ("saddle-bag")
scrotum, and laxity of the ligaments resulting in bending back of the knees (genu
recurvatum), flat feet, and overly extensible fingers. There are X-linked and autosomal
forms of the disease. The gene for the X-linked form has been mapped to chromosome
band Xp11.21 and identified as the FGD1 gene.
T he disease is named for DJ Aarskog (1928-) and CI Scott, Jr. (1934-), Norwegian
and American pediatricians, who described it in 1970 and 1971. It is also known
as Aarskog syndrome, faciodigitogenital dysplasia, and faciogenital dysplasia.
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